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Cellosaurus XACHi009-A (CVCL_YM82)

[Text version]
Cell line name XACHi009-A
Synonyms P3
Accession CVCL_YM82
Resource Identification Initiative To cite this cell line use: XACHi009-A (RRID:CVCL_YM82)
Comments From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6240; KCNE1; Simple; p.Asp76Asn (c.226G>A); ClinVar=VCV000013477; Zygosity=Heterozygous (PubMed=32344329).
Disease Long QT syndrome 5 (NCIt: C172094)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=32344329; DOI=10.1016/j.scr.2020.101798
Zhang Y.-M., Li H., Wang J., Wang G.-X., Tan X.-Q., Lei M.
Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1 gene.
Stem Cell Res. 45:101798-101798(2020)

Cross-references
Cell line databases/resources hPSCreg; XACHi009-A
SKIP; SKIP005746
Encyclopedic resources Wikidata; Q98135122
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7